A case of microcephaly-capillary malformation syndrome caused by STAMBP gene variant
10.3969/j.issn.1002-0152.2023.12.006
- VernacularTitle:STAMBP基因变异引起小头畸形-毛细血管畸形综合征1例
- Author:
Xueyan CAO
1
;
Xing DING
;
Dongfang ZHOU
;
Huafang ZHOU
;
Yan CHEN
;
Fengjun ZHU
;
Yi YAO
;
Dezhi CAO
Author Information
1. 深圳市儿童医院神经内科,癫痫中心外科病区(深圳 518038)
- Keywords:
Refractory epilepsy;
Psychomotor retardation;
Infantile epileptic spasm syndrome;
STAMBP gene;
Microcephaly-capillary malformation syndrome
- From:
Chinese Journal of Nervous and Mental Diseases
2023;49(12):740-743
- CountryChina
- Language:Chinese
-
Abstract:
We reported a case of microcephaly-capillary malformation(MIC-CAP)caused by STAMBP gene variant,in order to improve the clinical diagnosis and treatment.The patient is a 3-month-old male with recurrent convulsions and the main clinical manifestations are multiple forms of seizures,microcephaly,multiple small capillary malformations in the skin,and generalized hypotonia.The genetic test showed that a heterozygous variant in the STAMBP gene was present in the child.Both parents were heterozygous carriers.He was administrated various anti-seizure medications and ketogenic diet,but still had frequent seizures.He then underwent corpus callosotomy,and was followed up until he was 4 years and 10 months old.The post operational outcome was grade IV on Engel's classification.Based on the clinical data of 22 patients in literature,in addition to severe psychomotor retardation,microcephaly,and cutaneous capillary malformations,early-onset drug-refractory epilepsy is also a major feature of MIC-CAP syndrome,which is clinically rare and has a poor prognosis;Callosotomy may help to reduce seizures in the short term.However,the long-term outcome is poor.STAMBP gene is the main responsible gene for this syndrome.
